Lista de obras -

A Novel APOC2 Mutation in a Colombian Patient with Recurrent Hypertriglyceridemic Pancreatitis

scientific article published on 26 March 2020

Congenital arthrogryposis multiplex and gastroschisis in the same patient

artículo científico publicado en 2010

Familial LCAT Deficiency and Low HDL-C Levels: In silico Characterization of Two Rare LCAT Missense Mutations

artículo científico publicado en 2024

First case of Moebius-Poland syndrome in child prenatally exposed to misoprostol

article

Hearing Loss in Patients With Morquio Syndrome: Protocol for a Scoping Review

artículo científico publicado en 2022

Hutchinson-Gilford Progeria Syndrome: Clinical and Molecular Characterization

scientific article published on 04 September 2020

Laparoscopic Hysterectomy and Bilateral Salpingectomy in a Patient with Microduplication Syndrome (20p13p12.1) and a Bicornuate Uterus: An Unreported Association

scientific article published on 25 August 2020

NAA10 p.(N101K) disrupts N-terminal acetyltransferase complex NatA and is associated with developmental delay and hemihypertrophy

scientific article published on 24 September 2020

PHEX Gene Mutation in a Patient with X-Linked Hypophosphatemic Rickets in a Developing Country

artículo científico publicado en 2020

Possible case of sirenomelia in the Tumaco-Tolita pottery pre-Columbian culture, 2000 years before the epidemic focus of sirenomelia in Cali-Colombia

artículo científico publicado en 2011

Prenatal Diagnosis of Pfeiffer Syndrome Patient with FGFR2 C.940-1G>C Variant: A Case Report

artículo científico publicado en 2020

Sirenomelia and cyclopia in the same patient after a cluster of cyclopia and sirenomelia in Cali (South America)

scientific article published on 24 May 2012

The Human Phenotype Ontology in 2024: phenotypes around the world

artículo científico publicado en 2023

[Isotretinoin embryopathy with microtia-anotia and congenital heart disease: case report]

artículo científico publicado en 2012

[Molar tooth sign: a characteristic image in Joubert syndrome]